The 3732delA mutation was found in a 18y male diagnosed at 1y of age, also carrying 1717-1G>A on the other allele.He is PI, has moderate lung disease and positive(borderline)sweat chloride. 3732delA was in cis with 3791C/T (K1220E). (pers. corr. Girodon)

Reference

Fanen et al. 1992

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Literature referencing this mutation. Sort by:
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.